Search Results - "Noordam, Michiel J"

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1 by Lopes, Alexandra M, Aston, Kenneth I, Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J, Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B, Dai, Juncheng, Downie, Jonathan M, Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E, Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A, Schiffman, Joshua D, Schlegel, Peter N, Sousa, Mário, Carrell, Douglas T, Conrad, Donald F

“…Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human…”
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Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count by NOORDAM, Michiel J, HENRIKE WESTERVELD, G, HOVINGH, Suzanne E, VAN DAALEN, Saskia K. M, KORVER, Cindy M, VAN DER VEEN, Fulco, VAN PELT, Ans M. M, REPPING, Sjoerd

“…The azoospermia factor c (AZFc) region harbors multi-copy genes that are expressed in the testis. Deletions of the AZFc region lead to reduced copy numbers of…”
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Y chromosome TSPY copy numbers and semen quality by Nickkholgh, Bita, M.D, Noordam, Michiel J., M.Sc, Hovingh, Suzanne E., M.Sc, van Pelt, Ans M.M., Ph.D, van der Veen, Fulco, M.D., Ph.D, Repping, Sjoerd, Ph.D

“…Objective To determine whether variation in testis-specific protein Y-encoded ( TSPY ) gene copy number affects semen quality. Design Nested case-control…”
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DeNovoGear: de novo indel and point mutation discovery and phasing by Ramu, Avinash, Noordam, Michiel J, Schwartz, Rachel S, Wuster, Arthur, Hurles, Matthew E, Cartwright, Reed A, Conrad, Donald F

“…The DeNovoGear software detects de novo point mutations and indels with high specificity in familial and somatic tissue sequence data. We present DeNovoGear…”
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The origins and functional effects of postzygotic mutations throughout the human life span by Rockweiler, Nicole B, Ramu, Avinash, Nagirnaja, Liina, Wong, Wing H, Noordam, Michiel J, Drubin, Casey W, Huang, Ni, Miller, Brian, Todres, Ellen Z, Vigh-Conrad, Katinka A, Zito, Antonino, Small, Kerrin S, Ardlie, Kristin G, Cohen, Barak A, Conrad, Donald F

“…Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health…”
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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia by Oud, Manon S., Ramos, Liliana, O'Bryan, Moira K., McLachlan, Robert I., Okutman, Özlem, Viville, Stephane, Vries, Petra F., Smeets, Dominique F.C.M., Lugtenberg, Dorien, Hehir‐Kwa, Jayne Y., Gilissen, Christian, de Vorst, Maartje, Vissers, Lisenka E.L.M., Hoischen, Alexander, Meijerink, Aukje M., Fleischer, Kathrin, Veltman, Joris A., Noordam, Michiel J.

“…Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the…”
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The human Y chromosome: a masculine chromosome by Noordam, Michiel J, Repping, Sjoerd

“…Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the…”
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Validating single-cell genomics for the study of renal development by Jain, Sanjay, Noordam, Michiel J, Hoshi, Masato, Vallania, Francesco L, Conrad, Donald F

“…Single-cell genomics will enable studies of the earliest events in kidney development, although it is unclear if existing technologies are mature enough to…”
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Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms by Lange, Julian, Noordam, Michiel J., van Daalen, Saskia K.M., Skaletsky, Helen, Clark, Brian A., Macville, Merryn V., Page, David C., Repping, Sjoerd

“…Amplicons – large, nearly identical repeats in direct or inverted orientation – are abundant in the male-specific region of the human Y chromosome (MSY) and…”
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Techniques and reasons to remain interested in the Y chromosome by Noordam, Michiel J, van der Veen, Fulco, Repping, Sjoerd

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Ligand selectivity of gonadotropin receptors. Role of the beta-strands of extracellular leucine-rich repeats 3 and 6 of the human luteinizing hormone receptor by Vischer, Henry F, Granneman, Joke C M, Noordam, Michiel J, Mosselman, Sietse, Bogerd, Jan

“…The difference in hormone selectivity between the human follicle-stimulating hormone receptor (hFSH-R) and human luteinizing hormone/chorionic gonadotropin…”
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Ligand Selectivity of Gonadotropin Receptors by Vischer, Henry F., Granneman, Joke C.M., Noordam, Michiel J., Mosselman, Sietse, Bogerd, Jan

“…The difference in hormone selectivity between the human follicle-stimulating hormone receptor (hFSH-R) and human luteinizing hormone/chorionic gonadotropin…”
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The origins and functional effects of postzygotic mutations throughout the human lifespan by Rockweiler, Nicole B., Ramu, Avinash, Nagirnaja, Liina, Wong, Wing H., Noordam, Michiel J., Drubin, Casey W., Huang, Ni, Miller, Brian, Todres, Ellen Z., Vigh-Conrad, Katinka A., Zito, Antonino, Small, Kerrin S., Ardlie, Kristin G., Cohen, Barak A., Conrad, Donald F.

“…Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health…”
Get full text

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1: e1003349 by Lopes, Alexandra M, Aston, Kenneth I, Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J, Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B, Dai, Juncheng, Downie, Jonathan M, Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E, Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A, Schiffman, Joshua D, Schlegel, Peter N, Sousa, Mário, Carrell, Douglas T, Conrad, Donald F

“…Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human…”
Get full text